Variant report

Variant	esv18101
Chromosome Location	chr8:125628575-125629271
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125628680..125631257-chr8:125639768..125642424,2	K562	blood:
2	chr8:125627070..125629934-chr8:125632719..125634846,3	MCF-7	breast:
3	chr8:125629075..125631557-chr8:125633717..125635693,2	K562	blood:
4	chr8:125625138..125627927-chr8:125628466..125631300,2	K562	blood:
5	chr8:125628848..125630797-chr8:125740676..125742783,2	MCF-7	breast:
6	chr8:125628662..125631478-chr8:125658483..125661336,2	MCF-7	breast:
7	chr8:125628049..125629556-chr8:125636539..125638565,2	MCF-7	breast:
8	chr8:125623069..125624735-chr8:125628903..125630679,2	K562	blood:
9	chr8:125627353..125628937-chr8:125644773..125647709,2	K562	blood:
10	chr8:125627308..125630217-chr8:125638327..125642424,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000170873	chromatin interactions

Extended variants
information (count: 30 )
Associated
traits (count: 146 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4871516	chr8:125628599-125628600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550737877	chr8:125628613-125628614	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs76723839	chr8:125628615-125628616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs75442619	chr8:125628616-125628617	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs112058822	chr8:125628629-125628630	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs560138280	chr8:125628635-125628636	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs398009755	chr8:125628636-125628637	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs569826664	chr8:125628647-125628648	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs141833533	chr8:125628666-125628667	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs11994520	chr8:125628685-125628686	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs76300961	chr8:125628686-125628687	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs565953698	chr8:125628693-125628694	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs34038975	chr8:125628705-125628706	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566610372	chr8:125628724-125628725	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs71576743	chr8:125628770-125628771	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs34157255	chr8:125628789-125628790	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs186749678	chr8:125628912-125628913	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs117339111	chr8:125628923-125628924	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11995300	chr8:125628928-125628929	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs192056285	chr8:125628933-125628934	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs181579465	chr8:125628957-125628958	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs545224155	chr8:125629023-125629024	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185288921	chr8:125629046-125629047	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190200639	chr8:125629053-125629054	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs541331596	chr8:125629069-125629070	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570966786	chr8:125629104-125629105	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs560498443	chr8:125629128-125629129	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs372935953	chr8:125629159-125629160	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543491850	chr8:125629205-125629206	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs537936077	chr8:125629256-125629257	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:146)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Prostate cancer	22341455	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Ovarian cancer	21240255	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125614000-125628800	Enhancers	Liver	Liver
2	chr8:125616000-125630200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:125617600-125631400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:125617800-125628600	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:125618000-125632800	Weak transcription	HUVEC	blood vessel
6	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:125619200-125630800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
9	chr8:125621800-125631400	Weak transcription	Esophagus	oesophagus
10	chr8:125623200-125630800	Weak transcription	Pancreas	Pancrea
11	chr8:125623200-125631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:125623400-125630800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:125623600-125630400	Weak transcription	Gastric	stomach
14	chr8:125624200-125633800	Enhancers	Brain Hippocampus Middle	brain
15	chr8:125624600-125629000	Weak transcription	HSMMtube	muscle
16	chr8:125624800-125628800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:125624800-125631200	Enhancers	Brain Germinal Matrix	brain
18	chr8:125624800-125633000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:125625000-125628600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr8:125625000-125629400	Weak transcription	Fetal Brain Male	brain
21	chr8:125625200-125634400	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:125625400-125630600	Enhancers	Primary B cells from cord blood	blood
23	chr8:125625400-125632200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr8:125625800-125628600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:125626000-125630800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:125626200-125629400	Weak transcription	Psoas Muscle	Psoas
27	chr8:125626200-125629800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:125626200-125630400	Weak transcription	Osteobl	bone
29	chr8:125626400-125630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:125626400-125630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr8:125626400-125631400	Enhancers	Adipose Nuclei	Adipose
32	chr8:125626400-125631400	Weak transcription	NHEK	skin
33	chr8:125626400-125638800	Weak transcription	HMEC	breast
34	chr8:125626600-125628600	Enhancers	Spleen	Spleen
35	chr8:125626600-125630600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:125626600-125635600	Enhancers	Fetal Heart	heart
37	chr8:125627000-125629800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:125627000-125633400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr8:125627000-125633600	Enhancers	Brain Cingulate Gyrus	brain
40	chr8:125627200-125631400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:125627200-125631600	Enhancers	HepG2	liver
42	chr8:125627200-125632800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr8:125627200-125633000	Enhancers	Brain Angular Gyrus	brain
44	chr8:125627200-125633400	Enhancers	Brain Substantia Nigra	brain
45	chr8:125627200-125633600	Enhancers	Brain Anterior Caudate	brain
46	chr8:125627200-125633800	Enhancers	Placenta	Placenta
47	chr8:125627200-125634200	Enhancers	Fetal Muscle Leg	muscle
48	chr8:125627200-125635400	Enhancers	Fetal Thymus	thymus
49	chr8:125627200-125635400	Enhancers	Left Ventricle	heart
50	chr8:125627200-125635400	Enhancers	Skeletal Muscle Female	skeletal muscle

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